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264 related items for PubMed ID: 30239670

  • 1. An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.
    Chatterjee D, Fatah M, Akdis D, Spears DA, Koopmann TT, Mittal K, Rafiq MA, Cattanach BM, Zhao Q, Healey JS, Ackerman MJ, Bos JM, Sun Y, Maynes JT, Brunckhorst C, Medeiros-Domingo A, Duru F, Saguner AM, Hamilton RM.
    Eur Heart J; 2018 Nov 21; 39(44):3932-3944. PubMed ID: 30239670
    [Abstract] [Full Text] [Related]

  • 2. Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.
    Chen P, Li Z, Yu B, Ma F, Li X, Wang DW.
    Int J Cardiol; 2020 Jan 01; 298():25-31. PubMed ID: 31653443
    [Abstract] [Full Text] [Related]

  • 3. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
    Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.
    Circulation; 2006 Mar 07; 113(9):1171-9. PubMed ID: 16505173
    [Abstract] [Full Text] [Related]

  • 4. Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
    Vite A, Gandjbakhch E, Hery T, Fressart V, Gary F, Simon F, Varnous S, Hidden Lucet F, Charron P, Villard E.
    Europace; 2020 Feb 01; 22(2):320-329. PubMed ID: 31845994
    [Abstract] [Full Text] [Related]

  • 5. Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
    Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.
    Hum Mutat; 2013 May 01; 34(5):697-705. PubMed ID: 23381804
    [Abstract] [Full Text] [Related]

  • 6. Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy.
    Christensen AH, Andersen CB, Wassilew K, Svendsen JH, Bundgaard H, Brand SM, Schmitz B.
    J Mol Cell Cardiol; 2019 Jun 01; 131():164-170. PubMed ID: 31051180
    [Abstract] [Full Text] [Related]

  • 7. Mutations of desmoglein-2 in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexplained death.
    Zhang M, Xue A, Shen Y, Oliveira JB, Li L, Zhao Z, Burke A.
    Forensic Sci Int; 2015 Oct 01; 255():85-8. PubMed ID: 26296472
    [Abstract] [Full Text] [Related]

  • 8. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
    Qadri S, Anttonen O, Viikilä J, Seppälä EH, Myllykangas S, Alastalo TP, Holmström M, Heliö T, Koskenvuo JW.
    BMC Med Genet; 2017 Aug 17; 18(1):86. PubMed ID: 28818065
    [Abstract] [Full Text] [Related]

  • 9. Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.
    Zhou X, Chen M, Song H, Wang B, Chen H, Wang J, Wang W, Feng S, Zhang F, Ju W, Li M, Gu K, Cao K, Wang DW, Yang B.
    Eur J Med Genet; 2015 Apr 17; 58(4):258-65. PubMed ID: 25765472
    [Abstract] [Full Text] [Related]

  • 10. Evaluation of autoantibodies to desmoglein-2 in dogs with and without cardiac disease.
    Walker AL, Li RHL, Nguyen N, Jauregui CE, Meurs KM, Gagnon AL, Stern JA.
    Sci Rep; 2023 Mar 28; 13(1):5044. PubMed ID: 36977772
    [Abstract] [Full Text] [Related]

  • 11. High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
    Hermida A, Fressart V, Hidden-Lucet F, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller DI, Rouanet S, Charron P, Gandjbakhch E.
    Eur J Heart Fail; 2019 Jun 28; 21(6):792-800. PubMed ID: 30790397
    [Abstract] [Full Text] [Related]

  • 12. Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
    Lahtinen AM, Lehtonen E, Marjamaa A, Kaartinen M, Heliö T, Porthan K, Oikarinen L, Toivonen L, Swan H, Jula A, Peltonen L, Palotie A, Salomaa V, Kontula K.
    Heart Rhythm; 2011 Aug 28; 8(8):1214-21. PubMed ID: 21397041
    [Abstract] [Full Text] [Related]

  • 13. A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
    Chen L, Rao M, Chen X, Chen K, Ren J, Zhang N, Zhao Q, Yu W, Yuan B, Song J.
    Int J Cardiol; 2019 Jan 01; 274():263-270. PubMed ID: 30454721
    [Abstract] [Full Text] [Related]

  • 14. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
    Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA, Multidisciplinary Study of Right Ventricular Dysplasia Investigators.
    J Am Coll Cardiol; 2010 Feb 09; 55(6):587-97. PubMed ID: 20152563
    [Abstract] [Full Text] [Related]

  • 15. Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.
    Nakajima T, Kaneko Y, Irie T, Takahashi R, Kato T, Iijima T, Iso T, Kurabayashi M.
    Circ J; 2012 Feb 09; 76(3):737-43. PubMed ID: 22214898
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.
    Zorzi A, Rigato I, Pilichou K, Perazzolo Marra M, Migliore F, Mazzotti E, Gregori D, Thiene G, Daliento L, Iliceto S, Rampazzo A, Basso C, Bauce B, Corrado D.
    Europace; 2016 Jul 09; 18(7):1086-94. PubMed ID: 26138720
    [Abstract] [Full Text] [Related]

  • 17. Arrhythmogenic cardiomyopathy-related cadherin variants affect desmosomal binding kinetics.
    Göz M, Pohl G, Steinecker SM, Walhorn V, Milting H, Anselmetti D.
    J Mol Cell Cardiol; 2024 Oct 09; 195():36-44. PubMed ID: 39079569
    [Abstract] [Full Text] [Related]

  • 18. Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report.
    Sato T, Nishio H, Suzuki K.
    Leg Med (Tokyo); 2011 Nov 09; 13(6):298-300. PubMed ID: 22000064
    [Abstract] [Full Text] [Related]

  • 19. Arrhythmogenic right ventricular cardiomyopathy in dogs.
    Cunningham SM, Dos Santos L.
    J Vet Cardiol; 2022 Apr 09; 40():156-169. PubMed ID: 34503916
    [Abstract] [Full Text] [Related]

  • 20. In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
    Debus JD, Milting H, Brodehl A, Kassner A, Anselmetti D, Gummert J, Gaertner-Rommel A.
    J Mol Cell Cardiol; 2019 Apr 09; 129():303-313. PubMed ID: 30885746
    [Abstract] [Full Text] [Related]

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